Erschienen in:
02.07.2019 | Short Communication
Novel mutations in two unrelated Italian patients with SSADH deficiency
verfasst von:
Marta Balzarini, Valentina Rovelli, Sabrina Paci, Miriam Rigoldi, Giuseppina Sanna, Sara Pillai, Marilisa Asunis, Rossella Parini, Bianca Maria Ciminelli, Patrizia Malaspina
Erschienen in:
Metabolic Brain Disease
|
Ausgabe 5/2019
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Abstract
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of γ-aminobutyric acid (GABA) catabolism caused by mutations in the gene coding for succinic semialdehyde dehydrogenase (ALDH5A1). The abnormal levels of GHB detected in the brain and in all physiological fluids of SSADHD patients represent a diagnostic biochemical hallmark of the disease. Here we report on the clinical and molecular characterization of two unrelated Italian patients and the identification of two novel mutations: a 22 bp DNA duplication in exon 1, c.114_135dup, p.(C46AfsX97), and a non-sense mutation in exon 10, c.1429C > T, p.(Q477X). The two patients showed very different clinical phenotypes, coherent with their age. These findings enrich the characterization of SSADHD families and contribute to the knowledge on the progression of the disease.